patho foundations

Comprehensive vocabulary flashcards covering key topics from Chapter 1 to Chapter 7 of the lecture transcript, including cellular injury mechanisms, apoptosis, necrosis, genetics, epigenetics, and specific genetic disorders.

Hypoxia

A lack of oxygen in tissue that can cause loss of consciousness and initially impacts oxygen-sensitive organs like the brain.

Ischemia

Decreased circulation or blood perfusion to a tissue.

Anemia

A condition characterized by not having enough red blood cells in the circulation.

Pernicious anemia

The most common type of anemia caused by an iron deficiency required to produce the protein hemoglobin.

Reactive oxygen species (ROS)

Free radicals produced as normal byproducts of mitochondrial or aerobic respiration that have freed-up electrons capable of interacting with the plasma membrane.

Superoxide dismutase

A specific enzyme intrinsic to cells that helps combat oxidative stress by metabolizing reactive oxygen species.

Endogenous chemical damage

Cellular injury caused by internal chemical imbalances within the body, such as hyperglycemia, hypercalcemia, or sodium and electrolyte imbalances.

Exogenous chemical damage

Cellular damage caused by external agents, including UV radiation, smoking, inhaled chemicals, drugs, or air pollutants.

Autoimmune disease

A condition in which the immune system attacks a part of the body that it should normally recognize as self.

Apoptosis

Programmed cell death occurring in a programmatic, stepwise manner without resulting in an inflammatory response.

Pycnosis

A nuclear change during apoptosis where the DNA becomes extremely compact and the nucleus becomes dark.

Cleaved caspase cascade

The stepwise, programmatic series of enzyme activations that executes apoptosis.

Necrosis

Chaotic cell death characterized by membrane damage and cell leakage, which initiates an inflammatory response.

Infarction

Tissue death (ischemic necrosis) resulting from prolonged or chronic reduced circulation.

Gangrene

Tissue death and necrosis caused by prolonged reduction in circulation or bacterial infection, such as Clostridium emitting gas.

Gene

A nucleotide sequence within DNA that codes for specific proteins or basic units of hereditary information.

Epigenetics

Alterations in gene expression (such as gene silencing or overexpression) without changes to the DNA sequence itself.

Pharmacogenetics

The science linking gene function and physiology to health status, disease status, and pharmacological responses to medications.

Genetics

The study of inherited traits as they are passed along different generations.

Genomics

The study of the genome, including both coding (exons) and noncoding (introns) regions of DNA.

Codon

A three nucleotide sequence in a gene that translates to a specific amino acid.

Germ cell mutations

Gene mutations affecting sex cells (gametes) that are passed down through lineages.

Somatic cell mutations

Mutations affecting non-gamete body cells caused by factors like environmental damage, which cannot be passed to offspring.

Aneuploidy

An abnormal number of chromosomes in a cell, such as trisomy twenty one in Down syndrome.

Allele

A version of a gene inherited from one parent located on a chromosome.

Genotype

The specific genetic makeup or combination of alleles carried by an individual.

Phenotype

The observable physical or functional expression of an individual's genes.

Dominant trait

A trait that requires only one copy of an allele to express a phenotype.

Recessive trait

A trait that requires two copies of an allele (maternal and paternal) to be phenotypically expressed.

Penetrance

The proportion of individuals in a population with a given genotype who express the corresponding phenotype.

Expressivity

The degree or variability in the severity of symptoms of a genetic disorder among individuals expressing the phenotype.

Familial hypercholesterolemia

An autosomal dominant disease characterized by decreased LDL receptors and increased cholesterol in circulation leading to atherosclerosis.

Familial adenomatous polyposis (FAP)

An autosomal dominant genetic disease affecting the GI tract that causes dysplastic polyps in the colon with a high likelihood of progressing to cancer.

Marfan syndrome

An autosomal dominant disorder affecting the FBN one connective tissue protein, leading to cardiovascular dysfunction in heart valves and the aorta.

Neurofibromatosis

An autosomal dominant genetic disease resulting from mutations in neurofibroma one and two genes, presenting with cafe lot spots on the skin and internal organs.

Ehlers Danlos syndrome

A genetic disease affecting connective tissue integrity in joints, bones, cartilage, and organs, causing high susceptibility to joint dislocations.

Cystic fibrosis

An autosomal recessive disease caused by CFTR gene mutations, resulting in excessive mucin accumulation in the pulmonary system and digestive dysfunction in the pancreas.

Tay Sachs disease

A lysosomal storage disorder caused by deficiencies in enzymes responsible for breaking down gangliosides.

Glucose six phosphate dehydrogenase deficiency

A sex-linked (X-linked) enzyme deficiency that causes premature red blood cell lysis or hemolysis.

Wilson disease

An autosomal recessive disorder characterized by inability to excrete copper properly, causing copper accumulation in liver cells and a Kyser flusher ring in the eyes.

Klinefelter syndrome

An aneuploidy disorder characterized by an XXY sex chromosome genotype.

Turner syndrome

An aneuploidy disorder characterized by having only 45 total chromosomes with a single X sex chromosome.

Prader Willi syndrome

A genetic disorder affecting paternal genes on chromosome 15 that impacts the hypothalamus, causing low muscle tone, low IQ, and underdeveloped gonads.

Engelmann's syndrome

A genetic disorder affecting maternal genes on chromosome 15 that specifically presents with neurological manifestations.

Huntington's disease

An autosomal disorder involving the huntingtin protein that presents as a movement, cognitive, and behavioral disorder.